One of my automated PubMed searches just brought up a paper that’s well outside the scope of my usual reading material. I’m glad I persevered with it, though, because this is a very important paper that highlights the dangers inherent in patents on gene sequences.
Thomas Kepler, Colin Crossman, and Robert Cook-Deegan from Duke University in North Carolina assessed the reach of a patent on the sequence of the human BRCA1 gene, a major susceptibility locus for breast and ovarian cancer. Women with a family history of these cancers are routinely referred for BRCA1 and BRCA2 mutation testing, and positive results have serious enough ramifications for the patient and her relatives that DIY testing would be an incredibly bad idea.
A company called Myriad Genetics currently holds patents relating to BRCA1 and BRCA2 testing, patents that technically prohibit any other entity from carrying out these important genetic tests (the Canadian Cancer Society have a synopsis of the current state of affairs on their website).
The paper by Kepler et al., cleverly titled “Metastasizing patent claims on BRCA1“1, analyses the impact of one particular part of the patent claim, a claim that seemed “particularly broad”:
“The patent first makes claim 1, to “An isolated DNA coding for a BRCA1 polypeptide, said polypeptide having the amino acid sequence set forth in SEQ ID NO:2.” SEQ ID NO:2 is the 1863-residue amino acid sequence for the protein encoded by the BRCA1 gene. The patent further claims “5. An isolated DNA having at least 15 nucleotides of the DNA of claim 1.” Note that claim 1 is DNA coding for the polypeptide, not for any specific gene. There are, of course, many polynucleotides that would encode the BRCA1 polypeptide. Claim 5, then, is a claim on any 15-mer oligonucleotide found in any such sequence.”
The authors used some fancy-pants numbersmithin’ to assess the reach of this patent claim, and estimate that:
“the human genome contains over one million oligonucleotides covered by this claim, and that most human genes contain at least one and usually several oligonucleotides covered by the claim.”
The estimate appears to stand up after some fancy-pants samplin’ and other analyses.
Having sequenced my fair share of DNA as part of completely non-BRCA1-related projects, I’m probably in breach of this patent myself, and I’d be willing to bet that a fair percentage of the people reading this blog post are too. And interestingly, this very fact may represent grounds for ruling the patent invalid; the vast majority of gene sequences submitted to GenBank before the patent was filed contain the offending oligonucleotides. There goes that novelty claim, then…
This paper is a very creative (and hopefully effective) way to highlight the perils of patents on gene sequences, a practice that I personally have never understood and think should be decisively (and retroactively) banned. The BRCA patents are currently the subject of a lawsuit brought against Myriad Genetics by the American Civil Liberties Union and other entities, including scientific associations and patient advocacy groups. It goes without saying that the results of the lawsuit are of paramount importance, and very eagerly awaited…
1. The paper is currently an uncorrected proof in the journal Genomics. doi:10.1016/j.ygeno.2010.03.003